Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
342371
Gene name Gene Name - the full gene name approved by the HGNC.
Ataxin 1 like
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ATXN1L
Synonyms (NCBI Gene) Gene synonyms aliases
BOAT, BOAT1
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16q22.2
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT051885 hsa-let-7b-5p CLASH 23622248
MIRT048295 hsa-miR-107 CLASH 23622248
MIRT660421 hsa-miR-543 HITS-CLIP 23824327
MIRT660420 hsa-miR-501-5p HITS-CLIP 23824327
MIRT660419 hsa-miR-549a HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0003677 Function DNA binding IEA
GO:0003723 Function RNA binding IEA
GO:0005515 Function Protein binding IPI 21475249, 32296183
GO:0005634 Component Nucleus IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
614301 33279 ENSG00000224470
Protein
UniProt ID P0C7T5
Protein name Ataxin-1-like (Brother of ataxin-1) (Brother of ATXN1)
Protein function Chromatin-binding factor that repress Notch signaling in the absence of Notch intracellular domain by acting as a CBF1 corepressor. Binds to the HEY promoter and might assist, along with NCOR2, RBPJ-mediated repression (PubMed:21475249). Can sup
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08517 AXH 469 582 Ataxin-1 and HBP1 module (AXH) Family
Tissue specificity TISSUE SPECIFICITY: Expressed in cerebellum and cerebral cortex. {ECO:0000269|PubMed:16121196}.
Sequence
MKPVHERSQECLPPKKRDLPVTSEDMGRTTSCSTNHTPSSDASEWSRGVVVAGQSQAGAR
VSLGGDGAEAITGLTVDQYGMLYKVAVPPATFSPTGLPSVVNMSPLPPTFNVASSLIQHP
GIHYPPLHYAQLPSTSLQFIGSPYSLPYAVPPNFLPSPLLSPSANLATSHLPHFVPYASL
LAEGATPPPQAPSPAHSFNKAPSATSPSGQLPHHSSTQPLDLAPGRMPIYYQMSRLPAGY
TLHETPPAGASPVLTPQESQSALEAAAANGGQRPRERNLVRRESEALDSPNSKGEGQGLV
PVVECVVDGQLFSGSQTPRVEVAAPAHRGTPDTDLEVQRVVGALASQDYRVVAAQRKEEP
SPLNLSHHTPDHQGEGRGSARNPAELAEKSQARGFYPQSHQEPVKHRPLPKAMVVANGNL
VPTGTDSGLLPVGSEILVASSLDVQARATFPDKEPTPPPITSSHLPSHFMKGAIIQLATG
ELKRVEDLQTQDFVRSAEVSGGLKIDSSTVVDIQESQWPGFVMLHFVVGEQQSKVSIEVP
PEHPFFVYGQGWSSCSPGRTTQLFSLPCHRLQVGDVCISISL
QSLNSNSVSQASCAPPSQ
LGPPRERPERTVLGSRELCDSEGKSQPAGEGSRVVEPSQPESGAQACWPAPSFQRYSMQG
EEARAALLRPSFIPQEVKLSIEGRSNAGK
Sequence length 689
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  
  Notch signaling pathway
Spinocerebellar ataxia
Pathways of neurodegeneration - multiple diseases
 
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Spinocerebellar ataxia Ataxia, Spinocerebellar, Spinocerebellar Ataxia Type 1, Spinocerebellar Ataxia Type 2, Spinocerebellar Ataxia Type 4, Spinocerebellar Ataxia Type 5, Spinocerebellar Ataxia Type 6 (disorder), Spinocerebellar Ataxia Type 7 rs80356538, rs80356539, rs56144125, rs28937887, rs80356544, rs80356540, rs80356542, rs1941485201, rs121918306, rs151344520, rs151344519, rs151344521, rs151344523, rs151344512, rs193922926
View all (203 more)
17322884
Unknown
Disease term Disease name Evidence References Source
Gout Gout GWAS
Myocardial Infarction Myocardial Infarction GWAS
Associations from Text Mining
Disease Name Relationship Type References
Sarcoma Associate 35836290